An introduction to the complex and unique characteristics of DS is provided for those working in the field of behavior analysis with the hope of facilitating innovative research to discover effective applied behavior analytic interventions and treatments to help individuals with DS receive the needed supports and live a higher quality of life.
Abstract
Dravet syndrome (DS) is a rare and severe developmental and epileptic encephalopathy that is characterized by prolonged seizures beginning in the first year of life, followed by debilitating and complex features, including sleep disturbances, feeding problems, social‐emotional difficulties, speech deficits, and cognitive and motor impairments. While research with the DS population has been primarily focused on reducing seizures and other medical symptoms of DS, caregivers report many additional symptoms, such as behavior and cognitive impairment, that significantly impact their loved one with DS and the caregiver and family quality of life. As is common in rare disease research, medical and pharmacological research often takes precedent due to the significant burden of disease. However, therapies based on the science of applied behavior analysis could potentially address the behaviors, skill deficits, and cognitive challenges associated with DS. This article aims to provide an introduction to the complex and unique characteristics of DS for those working in the field of behavior analysis, with the hope of facilitating innovative research to discover effective applied behavior analytic interventions and treatments to help individuals with DS receive the needed supports and live a higher quality of life.
Objective: Landau-Kleffner Syndrome (LKS) is a rare pediatric epileptic encephalopathy characterized by the abrupt or gradual loss of previously acquired language abilities and epileptiform EEG abnormalities. The syndrome poses significant diagnostic challenges due to its clinical overlap with autism spectrum disorder...
Şevval Erdem, Fethiye Kılıçaslan, B. Tüysüz et al.· Psychiatry and Behavioral Sc...· 0 citations
INTRODUCTION
Alternating hemiplegia of childhood (AHC) is a rare ATP1A3-related neurodevelopmental disorder characterized by recurrent hemiplegic episodes, paroxysmal neurological symptoms, and progressive motor and cognitive impairment. This systematic review summarizes current evidence on its clinical course, comorbi...
Malwina Brzozowska, Aleksandra Tobiasz, Agata Jaunich et al.· Neurologia i Neurochirurgia...· 0 citations
Fenfluramine was associated with clinically meaningful improvements across several symptom domains in patients with RTT, including seizures, respiratory dysfunction, behavior, sleep, and overall disease severity, with an acceptable safety profile.
E. González-Alguacil, Nuria Lamagrande Casanova, Manuel Luján-Bonete et al.· Epilepsia Open· 0 citations
Future research should include considering refining the diagnostic criteria and delineating functional tic disorders, as well as the tic-related obsessive–compulsive behaviours, as this may have implications for treatment, understanding the underlying neurobiology, and the development of personalized interventions focu...
Valsamma Eapen, Harvey S. Singer, C. Mathews et al.· Nature Reviews Disease Prime...· 0 citations
The findings are consistent with previous literature indicating that expressive language may be more affected than receptive language in children with DS and highlight substantial variability in the relationship between language abilities and broader developmental functioning, supporting the use of multidimensional and...
Esther Moraleda-Sepúlveda, Ana Perantón-Millán, Noelia Pulido-García et al.· Acta Psychologica· 0 citations
Objective: Our objective is to add to the general literature surrounding PHACE syndrome, a rare neurocutaneous disorder characterized by Posterior fossa malformations, Hemangioma, Arterial abnormalities, Cardiac deficits, and Eye abnormalities, occurring in 2-3% of patients with infantile hemangioma. This case study...
Naomi L. Edwards, Robert Hickson, Patricia Lau et al.· Archives of Clinical Neurops...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.